Incidental Mutation 'R5657:Galnt12'
| ID |
442371 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Galnt12
|
| Ensembl Gene |
ENSMUSG00000039774 |
| Gene Name |
polypeptide N-acetylgalactosaminyltransferase 12 |
| Synonyms |
A630062B03Rik |
| MMRRC Submission |
043171-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5657 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
47091909-47123070 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 47104150 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 136
(V136A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045721
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045041]
[ENSMUST00000107744]
|
| AlphaFold |
Q8BGT9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000045041
AA Change: V136A
PolyPhen 2
Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000045721
Gene: ENSMUSG00000039774
AA Change: V136A
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
20 |
37 |
N/A |
INTRINSIC |
|
low complexity region
|
78 |
91 |
N/A |
INTRINSIC |
|
Pfam:Glyco_tranf_2_3
|
131 |
375 |
3.4e-10 |
PFAM |
|
Pfam:Glycos_transf_2
|
134 |
317 |
1.4e-35 |
PFAM |
|
Pfam:Glyco_tranf_2_2
|
134 |
360 |
6.6e-8 |
PFAM |
|
Pfam:Glyco_transf_7C
|
290 |
363 |
3e-9 |
PFAM |
|
RICIN
|
440 |
572 |
8.09e-18 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107744
|
| SMART Domains |
Protein: ENSMUSP00000103373
Gene: ENSMUSG00000039774
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyco_transf_7C
|
5 |
71 |
7.5e-9 |
PFAM |
|
RICIN
|
148 |
280 |
8.09e-18 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000179673
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a family of UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferases, which catalyze the transfer of N-acetylgalactosamine (GalNAc) from UDP-GalNAc to a serine or threonine residue on a polypeptide acceptor in the initial step of O-linked protein glycosylation. Mutations in this gene are associated with an increased susceptibility to colorectal cancer.[provided by RefSeq, Mar 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agbl5 |
A |
G |
5: 31,051,390 (GRCm39) |
Y533C |
probably damaging |
Het |
| Ahnak |
T |
C |
19: 8,991,979 (GRCm39) |
V4421A |
probably damaging |
Het |
| Bach1 |
A |
G |
16: 87,516,173 (GRCm39) |
K238R |
probably benign |
Het |
| Bloc1s6 |
T |
A |
2: 122,580,577 (GRCm39) |
V12D |
probably benign |
Het |
| Clca3b |
C |
A |
3: 144,533,144 (GRCm39) |
L629F |
probably benign |
Het |
| Clhc1 |
A |
G |
11: 29,511,431 (GRCm39) |
I292V |
probably benign |
Het |
| Col27a1 |
T |
C |
4: 63,143,547 (GRCm39) |
S412P |
probably damaging |
Het |
| Col6a4 |
A |
G |
9: 105,949,397 (GRCm39) |
I746T |
probably damaging |
Het |
| Cracr2a |
G |
A |
6: 127,580,970 (GRCm39) |
A49T |
probably damaging |
Het |
| Cyb561d1 |
A |
G |
3: 108,108,008 (GRCm39) |
I28T |
possibly damaging |
Het |
| Dnah11 |
T |
A |
12: 117,847,352 (GRCm39) |
M4264L |
probably damaging |
Het |
| Dnajc13 |
A |
G |
9: 104,105,736 (GRCm39) |
L412S |
probably damaging |
Het |
| Dpf3 |
T |
C |
12: 83,371,785 (GRCm39) |
N150S |
probably damaging |
Het |
| Epha2 |
T |
C |
4: 141,050,805 (GRCm39) |
C854R |
probably damaging |
Het |
| Fat2 |
G |
T |
11: 55,201,507 (GRCm39) |
Y522* |
probably null |
Het |
| Foxm1 |
A |
T |
6: 128,350,351 (GRCm39) |
S551C |
possibly damaging |
Het |
| Gm6647 |
T |
G |
5: 13,818,835 (GRCm39) |
|
noncoding transcript |
Het |
| Grin2b |
T |
A |
6: 135,710,085 (GRCm39) |
I1154F |
possibly damaging |
Het |
| Hmcn1 |
A |
G |
1: 150,534,313 (GRCm39) |
V2987A |
probably benign |
Het |
| Jade2 |
A |
G |
11: 51,707,814 (GRCm39) |
S800P |
probably damaging |
Het |
| Naip6 |
C |
A |
13: 100,436,909 (GRCm39) |
S538I |
probably benign |
Het |
| Or1e33 |
T |
C |
11: 73,738,366 (GRCm39) |
N195S |
probably damaging |
Het |
| Plekha6 |
G |
C |
1: 133,200,045 (GRCm39) |
R208P |
possibly damaging |
Het |
| Plod1 |
T |
C |
4: 148,003,238 (GRCm39) |
E529G |
possibly damaging |
Het |
| Plppr2 |
T |
C |
9: 21,858,911 (GRCm39) |
C343R |
probably damaging |
Het |
| Prpf38a |
T |
C |
4: 108,425,621 (GRCm39) |
D219G |
probably damaging |
Het |
| Ptpra |
G |
A |
2: 130,346,204 (GRCm39) |
E122K |
probably benign |
Het |
| Rabl2 |
T |
C |
15: 89,472,416 (GRCm39) |
M38V |
probably benign |
Het |
| Reep1 |
A |
G |
6: 71,738,358 (GRCm39) |
M39V |
possibly damaging |
Het |
| Rsf1 |
GC |
GCGGCGGCGTC |
7: 97,229,141 (GRCm39) |
|
probably benign |
Het |
| Slc26a10 |
T |
C |
10: 127,010,833 (GRCm39) |
|
probably benign |
Het |
| Sun2 |
C |
A |
15: 79,612,150 (GRCm39) |
E510* |
probably null |
Het |
| Tanc1 |
A |
G |
2: 59,665,051 (GRCm39) |
|
probably null |
Het |
| Ticam1 |
TCACACA |
TCACA |
17: 56,577,629 (GRCm39) |
|
probably null |
Het |
| Tor1aip1 |
G |
T |
1: 155,883,234 (GRCm39) |
H205N |
probably damaging |
Het |
| Trpc6 |
C |
T |
9: 8,609,808 (GRCm39) |
T92I |
probably benign |
Het |
| Vmn2r100 |
T |
A |
17: 19,725,178 (GRCm39) |
F36I |
probably benign |
Het |
| Zfp787 |
T |
C |
7: 6,136,053 (GRCm39) |
Y66C |
probably damaging |
Het |
|
| Other mutations in Galnt12 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01877:Galnt12
|
APN |
4 |
47,112,315 (GRCm39) |
splice site |
probably benign |
|
|
IGL02188:Galnt12
|
APN |
4 |
47,122,521 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02217:Galnt12
|
APN |
4 |
47,113,832 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02388:Galnt12
|
APN |
4 |
47,117,941 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02550:Galnt12
|
APN |
4 |
47,104,126 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
IGL03062:Galnt12
|
APN |
4 |
47,122,566 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R0508:Galnt12
|
UTSW |
4 |
47,104,255 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1513:Galnt12
|
UTSW |
4 |
47,117,956 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1634:Galnt12
|
UTSW |
4 |
47,108,585 (GRCm39) |
splice site |
probably null |
|
|
R2072:Galnt12
|
UTSW |
4 |
47,108,477 (GRCm39) |
nonsense |
probably null |
|
|
R2297:Galnt12
|
UTSW |
4 |
47,113,834 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3113:Galnt12
|
UTSW |
4 |
47,108,415 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3157:Galnt12
|
UTSW |
4 |
47,104,264 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3158:Galnt12
|
UTSW |
4 |
47,104,264 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3159:Galnt12
|
UTSW |
4 |
47,104,264 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3725:Galnt12
|
UTSW |
4 |
47,104,140 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4284:Galnt12
|
UTSW |
4 |
47,104,231 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4691:Galnt12
|
UTSW |
4 |
47,104,143 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5134:Galnt12
|
UTSW |
4 |
47,113,818 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5408:Galnt12
|
UTSW |
4 |
47,104,169 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6074:Galnt12
|
UTSW |
4 |
47,112,405 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6406:Galnt12
|
UTSW |
4 |
47,122,534 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6721:Galnt12
|
UTSW |
4 |
47,122,529 (GRCm39) |
nonsense |
probably null |
|
|
R7287:Galnt12
|
UTSW |
4 |
47,108,525 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7407:Galnt12
|
UTSW |
4 |
47,120,362 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7512:Galnt12
|
UTSW |
4 |
47,108,406 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7810:Galnt12
|
UTSW |
4 |
47,113,786 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8815:Galnt12
|
UTSW |
4 |
47,113,908 (GRCm39) |
splice site |
probably benign |
|
|
R8823:Galnt12
|
UTSW |
4 |
47,091,928 (GRCm39) |
start gained |
probably benign |
|
|
R8871:Galnt12
|
UTSW |
4 |
47,108,582 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9144:Galnt12
|
UTSW |
4 |
47,113,822 (GRCm39) |
missense |
|
|
|
R9449:Galnt12
|
UTSW |
4 |
47,104,163 (GRCm39) |
nonsense |
probably null |
|
|
R9460:Galnt12
|
UTSW |
4 |
47,117,983 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9646:Galnt12
|
UTSW |
4 |
47,120,390 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9723:Galnt12
|
UTSW |
4 |
47,119,541 (GRCm39) |
nonsense |
probably null |
|
|
X0025:Galnt12
|
UTSW |
4 |
47,104,166 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTTGAGCGTCTTCTGGAGC -3'
(R):5'- TATGCCTCAAATTATCACTGGGC -3'
Sequencing Primer
(F):5'- CGGCGAGAGATCTTTTAGTAGATTAC -3'
(R):5'- TGGGCACACCTAGTCCCTC -3'
|
| Posted On |
2016-11-09 |
Incidental Mutation